When given the opportunity to dispense certain products, services, privileges, or other benefits that can be spread around, many of us feel an impulse to do the most good possible for the most people possible. This seems only natural, maybe even right, until you consider the adverse effects this approach can impose on people who are not among “the most”—people with rare diseases, for example. Acting on this impulse in biomedical research and health care services, then, would result in allocating resources to diseases that affect much larger numbers of people in preference to rare diseases.

Would that this were only an impulse easily overcome after a moment’s reflection. But this impulse actually reflects a well-established moral philosophy known as Utilitarianism, a philosophy that’s not so easy to brush aside. Utilitarianism directs us to take actions that produce the most good overall, or the most “utility,” as a philosopher or economist would call it. When biomedical research and health care services are directed to rare diseases, they generate utility on a smaller scale than when directed to diseases affecting larger populations. If the same amounts of resources are available to develop either a treatment for a rare disease or for a disease afflicting a much larger number of people, then the right course of action, according to Utilitarianism, is to pursue the treatment for the larger population. Thus, Utilitarianism creates borders that prevent or inhibit the flow of resources toward biomedical research and health care services in rare diseases.

Rare disease communities can counter Utilitarianism in two ways. The first is by critiquing Utilitarianism and offering alternative philosophical arguments that support the allocation of biomedical resources to rare diseases. The other is by taking action.

A critique that rare disease communities can aim at Utilitarianism is one that contemplates the “good” we want. Must we accept as good a set of actions that provide no support for biomedical research or health care services in rare diseases, because by doing so we would increase the utility to be gained from supporting diseases affecting large populations? While strict Utilitarians will embrace this proposition, the notion will give many others pause and lead them to accept only a modified Utilitarian approach that accommodates people with rare diseases in some way. But this critique is not enough to eliminate the border Utilitarianism creates.

The rare disease community might be more effective in using other moral philosophies to argue against Utilitarianism. One approach they could use flips Utilitarianism around by saying that the results of a set of acts matter less than the intrinsic rightness of the acts themselves1. Furthermore, this philosophy insists that people are ends in themselves and cannot be used as the means to any ends. On this basis, rare disease communities can argue that ignoring the needs of people with rare diseases to maximize benefits for a larger group of people fails to meet a minimum moral standard.

Another moral philosophy that counters Utilitarianism draws on fairness. People with rare diseases do not come to their predicaments through any process other than bad luck; they bear the unfairness Nature’s breadth can generate. This philosophy, Political Liberalism2, says we should take actions to adjust for what Nature and social circumstances can do to hinder any person’s fair opportunity for equality. It asks us to think about how we would structure a society as if we can’t know where we will be in that society ourselves. Applying this idea to rare diseases, we would ask ourselves-not knowing whether we would exist with a rare disease or not-whether we would build structures into a society that accounts for the needs of people with rare diseases as a matter of fairness.

Too much is at stake, however, for rare disease communities to count on the force of moral arguments as the way to secure needed biomedical and social resources. Arguments have to be turned into action, and the rare disease communities have been very effective in taking the right actions for their cause. This year we celebrate the 30th anniversary of one of the first and most important actions to secure biomedical resources for rare diseases, the Orphan Drug Act. Since the Act was signed into law in 1983, many other laws and regulations advanced by rare disease groups have effectively codified moral arguments supporting research and health care for people with rare diseases. These actions have been fortified by the work of hundreds of individual rare disease groups that continue to press the case for fair consideration.

Utilitarianism strictly applied erects borders that can make biomedical and social resources very difficult for rare disease communities to reach. Philosophical arguments might make these borders somewhat penetrable, but not enough to facilitate easy crossing. Rare disease communities have taken necessary actions to overcome the borders over the years. But Utilitarianism is a moral theory that has persisted across the ages and is deeply ingrained in American culture. Rare disease communities need to maintain unrelenting advocacy to keep the borders open.

1. This philosophy is known by the unhelpful designation of “deontology,” meaning that it is based on the concept of duty (in Greek, deon).
2. This, too, is not a terribly helpful name, but its author, John Rawls also refers to “Justice as Fairness” as a way to describe the idea.

I agree that action is what makes the difference but action is more likely to work if it is based on sound moral arguments. I think utilitarianism vs equality is a false dichotomy. The reality is more dynamic because there is utility in fairness i.e. society as a whole benefits when people know they are operating in a system that treats people fairly and attaches weight to minority interests. In addition, treatments for rare diseases often produce more utility for each patient than treatments for common conditions. You cannot just count the number of people who benefit from a given treatment, you have to weigh the amount of benefit rendered to each person. So 5 people with cystic fibrosis given Kalydeco will yield much more utility than 10 people given a slightly improved aspirin.

It is good to see that some are examining the “why” in support for rare diseases as well as the how, etc. Why people take the actions they do has been studied since the dawn of man and will continue to be studied given the complexities of the human brain and of societies. There are many philosophies that can explain some aspects of our approach to rare diseases and those who suffer from them. Utilitarianism is one that certainly works.

My wife was diagnosed 6 months ago with Multiple System Atrophy – Type C. We have been learning how to deal with that news on the fly for these past months with only the web, a very small network of doctors and a few friends. What I have learned points to a second philosophical explanation that might move our understanding along.

Constructivism seems to me to provide a better explanatory framework for how people react to rare diseases and their impact on individuals or a community. For example, within three weeks of being diagnosed my wife wanted her hair done so asked a friend for a recommendation. The hairdresser she was sent to ended up being a fundraiser for various causes. After just one hair appointment and the conversation that ensued the hairdresser, her staff and some of her Tuesday customers basically “adopted” my wife. That shop has become a “purple stop” with displays of MSA Coalition materials, a self-generated short bio of the patient and two different objects (a bracelet and a key chain) available for anyone who would like to buy one or donate money.

Those who are in the shop know MSA is a very rare disease and they may never meet another one with it. They also have “constructed” a perspective that any and all who suffer need some support no matter popularity of the disease. If people learn from their prior experiences and from their thinking about those experiences to take these types of actions then what might be necessary are the very actions and opportunities NORD and rare disease organizations can carry out. Inform, provide access to and actions with rare disease communities and advocate for them can provide the “experiential” learning necessary to construct a bridge across utilitarianism. Join in those types of activities and we may be able to build a better understanding of rare diseases and how to deal with those who have them.